Varaico: Literature-Extracted Genetic Variants

ACE2

772 papers

RefSeq Summary

The protein encoded by this gene belongs to the angiotensin-converting enzyme family of dipeptidyl carboxydipeptidases and has considerable homology to human angiotensin 1 converting enzyme. This secr...

Pfam Domains

Peptidase_M2aa 19–606UCSCAngiotensin-converting enzyme

Collectrinaa 617–770UCSCRenal amino acid transporter

Gene Aliases

HGNC Name

angiotensin converting enzyme 2

HGNC Alias Symbol

ACEH

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001371415.1

p.I436L

c.1306A>C

Surrounding Variants

2 papers

NM_001371415.1

p.I436L

c.1306A>T

1 paper

NM_001371415.1

p.E435D

c.1305A>T

1 paper

NM_001371415.1

p.E435D

c.1305A>C

1 paper

NM_001371415.1

p.T434insFs

c.1302dupA

1 paper

NM_001371415.1

p.N437Y

c.1309A>T

1 paper

NM_001371415.1

p.N437D

c.1309A>G

4 papers

NM_001371415.1

p.N437H

c.1309A>C

1 paper

NM_001371415.1

p.E435fs

c.1303_1304fs

1 paper

NM_001371415.1

p.N437I

c.1310A>T

7 papers

NM_001371415.1

p.N437S

c.1310A>G

1 paper

NM_001371415.1

p.N437T

c.1310A>C

1 paper

NM_001371415.1

p.N437N

c.1311C>T